Article
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
American journal of human genetics - 13 Jan 2012
Huppke Peter, Brendel Cornelia, Kalscheuer Vera, Korenke Georg Christoph, Marquardt Iris, Freisinger Peter, Christodoulou John, Hillebrand Merle, Pitelet Gaele, Wilson Callum, Gruber-Sedlmayr Ursula, Ullmann Reinhard, Haas Stefan, Elpeleg Orly, Nürnberg Gudrun, Nürnberg Peter, Dad Shzeena, Møller Lisbeth Birk, Kaler Stephen G, Gärtner Jutta
Abstract excerpt
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination....
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